|[April 16, 2014]
Risks of Whole-Genome Sequencing for Children: Medical Genetics Expert from Lucile Packard Children's Hospital Stanford Provides Tips for Parents
STANFORD, Calif. --(Business Wire)--
Children today live in a world where it is becoming easier and cheaper
to sequence their genome -- the full set of biological material
inherited from our ancestors that plays a major role in our development,
functioning and behavior. A few businesses have made whole-genome
sequencing available to the general public. Curiosity, or a family
history of illness, may motivate parents to purchase these tests for
themselves or their children.
But what about the risks?
"I strongly advise parents against whole-genome testing for their
children unless performed in the context of a medical evaluation
following formal counseling regarding the utility and limitations of the
testing, and the possible unrelated findings that may arise," says Louanne
Hudgins, MD, chief of medical genetics and director of perinatal
genetics at Lucile
Packard Children's Hospital Stanford.
For parents who may want to purchase direct-to-consumer, whole-genome
testing, Dr. Hudgins encourages careful consideration before making the
buy -- and offers these important tips:
1. Genome tests often identify sequence variants for adult-onset
disorders. While this knowledge may, in adulthood, assist with
medical care, it could be a profound and premature psychological burden
to parents and children. It also fails to honor the child's autonomy --
their independent right to decide for themselves whether they want to
have information about their future health revealed.
2. If your child is healthy, it's worth questioning your motivations
to test. Consider what are you looking for, and why. "In a healthy
child," says Hudgins, who is also a professor of pediatrics and medical
genetics at the Stanford University School of Medicine, "you're more
likely to find inconclusive results that will cause you unnecessary
anxiety." For children with concerning symptoms or undiagnosed diseases,
Hudgins suggests working directly with a medical care provider who
understands the utility and limitations of genetic testing and who can
interpret the results.
3. Consider the long-term privacy of your child's (and your own)
health information. Who will have access to the results of your
child's test, and how will those results be used? The privacy policies
of the testing companies vary widely and can change over time,
potentially leading to exposure of your child's private health
information. Parents should have concerns about the commercializing of
personal genetic information similar to the way social media sites and
search engines collect, store and share information about their users.
Some direct-to-consumer genome testing companies reserve the right to
use the personal health information that they gather during genetic
4. Genome tests are likely to identify "sequence variants of unknown
significance" -- results that may depend on the medical history of
the family or other factors to be conclusive, which may depend on
decades of future research that produces unexpected or nwanted results,
or which may never prove conclusive. Most doctors prefer to do specific
genetic testing for patients based on known risk factors.
5. Finding a sequence variant of unknown significance in a child may
be a signal to look at the genetic sequence of the parents, which
can sometimes lead to surprises for the family. Hudgins explains that is
not uncommon to discover situations of non-paternity (mistaken
fatherhood) or even to identify instances of "homozygosity" -- when
parents turn out to be related by blood.
6. Whole-genome tests may reveal that your child has a change in a
gene predisposing him or her to a disease, such as autism.
"This does not mean that your child will become autistic," Hudgins says.
"It means that, in large population studies, specific changes in that
gene were associated with an increased risk of autism. But it is not a
guarantee, as expression of each gene is influenced by a variety of
individual factors." While some results may provoke unfounded worry,
others may provide false reassurance.
7. Most direct-to-consumer genome testing companies do not have
genetic counselors available to interpret results, leaving parents
with an enormous amount of information about their child that they
cannot interpret on their own. Research-quality testing, interpretation
and analysis can take up to 100 hours and cost around $17,000 per
person, according to a recent
study by Stanford scientists published in the Journal of the
American Medical Association. The study also showed that the current
technology used for whole-genome sequencing is not yet as accurate as it
needs to be.
Click to read a statement co-authored by Dr. Hudgins on direct-to-consumer
whole-genome sequencing, courtesy of the American College of
About Stanford Children's Health and Lucile Packard Children's
Stanford Children's Health, with Lucile Packard Children's Hospital
Stanford at its core, is an internationally recognized leader in
world-class, nurturing care and extraordinary outcomes in every
pediatric and obstetric specialty from the routine to rare, for every
child and pregnant woman. Together with our Stanford
Medicine physicians, nurses, and staff, we deliver this innovative
care and research through partnerships, collaborations, outreach,
specialty clinics and primary care practices at more than 100 locations
in the U.S. western region. As a non-profit, we are committed to
supporting our community - from caring for uninsured or underinsured
kids, homeless teens and pregnant moms, to helping re-establish school
nurse positions in local schools. Learn more about our full range of
preeminent programs and network of care at stanfordchildrens.org,
and on our Healthier,
Happy Lives blog. Join us on Facebook,
Lucile Packard Children's Hospital Stanford is the heart of
Stanford Children's Health, and is one of the nation's top hospitals for
the care of children and expectant mothers. We are the only children's
hospital in Northern California with specialty programs ranked in the U.S.
News & World Report Top 10 for 2013-14, and the only
hospital in Northern California to receive the national 2013 Leapfrog
Children's Hospital award for quality and patient care safety.
Discover more at stanfordchildrens.org.
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